Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 Biomarker disease CLINGEN Atypical Clinical Course in Pediatric Hodgkin Lymphoma: Association With Germline Mutations in Interleukin-2-inducible T-Cell Kinase. 26056787 2015
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 Biomarker disease CLINGEN Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia. 25061172 2014
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 Biomarker disease CLINGEN IL-2-inducible T-cell kinase deficiency with pulmonary manifestations due to disseminated Epstein-Barr virus infection. 22487848 2012
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 Biomarker disease CLINGEN Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative diseases. 22289921 2012
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 Biomarker disease CLINGEN IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. 21109689 2011
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 Biomarker disease GENOMICS_ENGLAND IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach. 21109689 2011
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 GermlineCausalMutation disease ORPHANET Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 19425169 2009
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 GeneticVariation disease UNIPROT Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 19425169 2009
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 Biomarker disease CLINGEN Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. 19425169 2009
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 Biomarker disease CLINGEN Antiviral immune responses in Itk-deficient mice. 9311799 1997
CUI: C3552634
Disease: LYMPHOPROLIFERATIVE SYNDROME 1
LYMPHOPROLIFERATIVE SYNDROME 1
0.700 CausalMutation disease CLINVAR